CIS-4-DECENOIC ACID IN PLASMA - A CHARACTERISTIC METABOLITE IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY

  • 1 March 1988
    • journal article
    • research article
    • Vol. 34 (3), 548-551
Abstract
The profile of organic acids in plasma of patients with a deficiency of medium-chain actyl-CoA dehydrogenase (EC 1.3.99.3) was determined by gas-liquid chromatography of trimethylsilylated derivatives of the acids isolated by ethyl acetate extraction. All 13 patients had increased concentrations of free octanoate, cis-4-decenoate, and decanoate in their plasma. Cis-4-decenoate, an intermediary metabolite of linoleic acid, is pathognomonic of medium-chain acyl-CoA dehydrogenase deficiency. This metabolite does not accumulate in plasma after oral loading with medium-chain triglycerides, in contrast to octanoate and decanoate. Two post-mortem plasma samples from vitims of infant sudden-death syndrome had detectable octanoate and decanoate, but cis-4-decenoate could not be detected. The identification of cis-4-decenoate in plasma may be an aid in the diagnosis of an inherited defect in oxidation of medium-chain fatty acids.